← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 14-23400316-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23400316&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYH6",
"hgnc_id": 7576,
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002471.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_score": -2,
"allele_count_reference_population": 35,
"alphamissense_prediction": null,
"alphamissense_score": 0.5585,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " susceptibility to,Atrial septal defect 3,Cardiovascular phenotype,Dilated cardiomyopathy 1EE,Hypertrophic cardiomyopathy 1,Hypertrophic cardiomyopathy 14,Sick sinus syndrome 3,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9276701211929321,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5940,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_002471.4",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000405093.9",
"protein_coding": true,
"protein_id": "NP_002462.2",
"strand": false,
"transcript": "NM_002471.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5940,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000405093.9",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002471.4",
"protein_coding": true,
"protein_id": "ENSP00000386041.3",
"strand": false,
"transcript": "ENST00000405093.9",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1950,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6363,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 5853,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968262.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638321.1",
"strand": false,
"transcript": "ENST00000968262.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1947,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6407,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 5844,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968257.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638316.1",
"strand": false,
"transcript": "ENST00000968257.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1946,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5970,
"cdna_start": 1593,
"cds_end": null,
"cds_length": 5841,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968271.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638330.1",
"strand": false,
"transcript": "ENST00000968271.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "I",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6380,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 5838,
"cds_start": 1539,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968258.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1539T>G",
"hgvs_p": "p.Ile513Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638317.1",
"strand": false,
"transcript": "ENST00000968258.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "I",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6054,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 5838,
"cds_start": 1539,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968274.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1539T>G",
"hgvs_p": "p.Ile513Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638333.1",
"strand": false,
"transcript": "ENST00000968274.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "I",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6107,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 5838,
"cds_start": 1539,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000968289.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1539T>G",
"hgvs_p": "p.Ile513Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638348.1",
"strand": false,
"transcript": "ENST00000968289.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6520,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968250.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638309.1",
"strand": false,
"transcript": "ENST00000968250.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6410,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000968253.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638312.1",
"strand": false,
"transcript": "ENST00000968253.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6410,
"cdna_start": 1673,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968255.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638314.1",
"strand": false,
"transcript": "ENST00000968255.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6050,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968256.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638315.1",
"strand": false,
"transcript": "ENST00000968256.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6448,
"cdna_start": 1686,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968259.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638318.1",
"strand": false,
"transcript": "ENST00000968259.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6975,
"cdna_start": 2233,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000968261.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638320.1",
"strand": false,
"transcript": "ENST00000968261.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5964,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968281.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638340.1",
"strand": false,
"transcript": "ENST00000968281.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5998,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000968282.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638341.1",
"strand": false,
"transcript": "ENST00000968282.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5972,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968283.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638342.1",
"strand": false,
"transcript": "ENST00000968283.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6002,
"cdna_start": 1653,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968287.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638346.1",
"strand": false,
"transcript": "ENST00000968287.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6469,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000968288.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638347.1",
"strand": false,
"transcript": "ENST00000968288.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1939,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6352,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 5820,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000968290.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638349.1",
"strand": false,
"transcript": "ENST00000968290.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1938,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6440,
"cdna_start": 1682,
"cds_end": null,
"cds_length": 5817,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968252.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638311.1",
"strand": false,
"transcript": "ENST00000968252.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1938,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6423,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 5817,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968254.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638313.1",
"strand": false,
"transcript": "ENST00000968254.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1937,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5972,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 5814,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968269.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638328.1",
"strand": false,
"transcript": "ENST00000968269.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1937,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5943,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 5814,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968273.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638332.1",
"strand": false,
"transcript": "ENST00000968273.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1936,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5972,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 5811,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968268.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638327.1",
"strand": false,
"transcript": "ENST00000968268.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5937,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 5808,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968272.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638331.1",
"strand": false,
"transcript": "ENST00000968272.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1935,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5933,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 5808,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968278.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638337.1",
"strand": false,
"transcript": "ENST00000968278.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1934,
"aa_ref": "I",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5924,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 5805,
"cds_start": 1506,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968285.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1506T>G",
"hgvs_p": "p.Ile502Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638344.1",
"strand": false,
"transcript": "ENST00000968285.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1929,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6508,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 5790,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968251.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638310.1",
"strand": false,
"transcript": "ENST00000968251.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1929,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5941,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 5790,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000968267.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638326.1",
"strand": false,
"transcript": "ENST00000968267.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1929,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5998,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 5790,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968284.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638343.1",
"strand": false,
"transcript": "ENST00000968284.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1925,
"aa_ref": "I",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6317,
"cdna_start": 1578,
"cds_end": null,
"cds_length": 5778,
"cds_start": 1479,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968260.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1479T>G",
"hgvs_p": "p.Ile493Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638319.1",
"strand": false,
"transcript": "ENST00000968260.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1925,
"aa_ref": "I",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5990,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 5778,
"cds_start": 1479,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968280.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1479T>G",
"hgvs_p": "p.Ile493Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638339.1",
"strand": false,
"transcript": "ENST00000968280.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1922,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5896,
"cdna_start": 1592,
"cds_end": null,
"cds_length": 5769,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968276.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638335.1",
"strand": false,
"transcript": "ENST00000968276.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1909,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6233,
"cdna_start": 1586,
"cds_end": null,
"cds_length": 5730,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968263.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638322.1",
"strand": false,
"transcript": "ENST00000968263.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1908,
"aa_ref": "I",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5844,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 5727,
"cds_start": 1428,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000968286.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1428T>G",
"hgvs_p": "p.Ile476Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638345.1",
"strand": false,
"transcript": "ENST00000968286.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1906,
"aa_ref": "I",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5849,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 5721,
"cds_start": 1422,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000968275.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1422T>G",
"hgvs_p": "p.Ile474Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638334.1",
"strand": false,
"transcript": "ENST00000968275.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1900,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6199,
"cdna_start": 1591,
"cds_end": null,
"cds_length": 5703,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968264.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638323.1",
"strand": false,
"transcript": "ENST00000968264.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1847,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5863,
"cdna_start": 1780,
"cds_end": null,
"cds_length": 5544,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968265.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638324.1",
"strand": false,
"transcript": "ENST00000968265.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1847,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5758,
"cdna_start": 1679,
"cds_end": null,
"cds_length": 5544,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968277.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638336.1",
"strand": false,
"transcript": "ENST00000968277.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1812,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5564,
"cdna_start": 1590,
"cds_end": null,
"cds_length": 5439,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968279.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638338.1",
"strand": false,
"transcript": "ENST00000968279.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 611,
"aa_ref": "I",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 1677,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1521,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000968266.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1521T>G",
"hgvs_p": "p.Ile507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638325.1",
"strand": false,
"transcript": "ENST00000968266.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1882,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5805,
"cdna_start": null,
"cds_end": null,
"cds_length": 5649,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968270.1",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "c.1410+393T>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638329.1",
"strand": false,
"transcript": "ENST00000968270.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000557461.2",
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"hgvs_c": "n.1588T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000557461.2",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs142410102",
"effect": "missense_variant",
"frequency_reference_population": 0.00002168453,
"gene_hgnc_id": 7576,
"gene_symbol": "MYH6",
"gnomad_exomes_ac": 16,
"gnomad_exomes_af": 0.0000109448,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 19,
"gnomad_genomes_af": 0.000124857,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not provided|Hypertrophic cardiomyopathy 14|Hypertrophic cardiomyopathy 1;Dilated cardiomyopathy 1EE;Hypertrophic cardiomyopathy 14;Sick sinus syndrome 3, susceptibility to;Atrial septal defect 3|Sick sinus syndrome 3, susceptibility to|Cardiovascular phenotype",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.068,
"pos": 23400316,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.706,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_002471.4"
}
]
}